Publication: The impact of clinical genome sequencing in a global population with suspected rare genetic disease
dc.contributor.author | Ahmad Abou, Tayoun | |
dc.date.accessioned | 2024-10-08T07:01:06Z | |
dc.date.available | 2024-10-08T07:01:06Z | |
dc.date.issued | 2024 | |
dc.description.abstract | Abstract There is mounting evidence of the value of clinical genome sequencing (cGS) in individuals with suspected rare genetic disease (RGD), but cGS performance and impact on clinical care in a diverse population drawn from both high-income countries (HICs) and low- and middle-income countries (LMICs) has not been investigated. The iHope program, a philanthropic cGS initiative, established a network of 24 clinical sites in eight countries through which it provided cGS to individuals with signs or symptoms of an RGD and constrained access to molecular testing. A total of 1,004 individuals (median age, 6.5 years; 53.5% male) with diverse ancestral backgrounds (51.8% non-majority European) were assessed from June 2016 to September 2021. The diagnostic yield of cGS was 41.4% (416/1,004), with individuals from LMIC sites 1.7 times more likely to receive a positive test result compared to HIC sites (LMIC 56.5% [195/345] vs. HIC 33.5% [221/659], OR 2.6, 95% CI 1.9–3.4, p < 0.0001). A change in diagnostic evaluation occurred in 76.9% (514/668) of individuals. Change of management, inclusive of specialty eferrals, imaging and testing, therapeutic interventions, and palliative care, was reported in 41.4% (285/694) of individuals, which increased to 69.2% (480/694) when genetic counseling and avoidance of additional testing were also included. Individuals from LMIC sites were as likely as their HIC counterparts to experience a change in diagnostic evaluation (OR 6.1, 95% CI 1.1–N, p ¼ 0.05) and change of management (OR 0.9, 95% CI 0.5–1.3, p ¼ 0.49). Increased access to genomic testing may support diagnostic equity and the reduction of global health care disparities. | en_US |
dc.identifier.other | 204-2024.67 | |
dc.identifier.uri | https://repository.mbru.ac.ae/handle/1/1560 | |
dc.language.iso | en | en_US |
dc.subject | Clinical genome sequencing | en_US |
dc.subject | Genetic disease | en_US |
dc.subject | Genome sequencing | en_US |
dc.subject | Genome | en_US |
dc.title | The impact of clinical genome sequencing in a global population with suspected rare genetic disease | en_US |
dc.type | Article | en_US |
dspace.entity.type | Publication | en_US |